Variant report

Variant	rs56218609
Chromosome Location	chr2:172862314-172862315
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Variant related genes	Relation type
METAP1D	TF binding region
ENSG00000144355	Chromatin interaction
ENSG00000115844	Chromatin interaction
ENSG00000236651	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1008152	0.86[AMR][1000 genomes]
rs17428174	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17500114	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs55863868	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62183762	0.82[ASN][1000 genomes]
rs62183765	0.82[ASN][1000 genomes]
rs62183804	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62183808	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62183809	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62183852	0.86[AMR][1000 genomes]
rs6704590	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6737876	0.86[AMR][1000 genomes]
rs6749895	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6761111	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72890842	0.82[ASN][1000 genomes]
rs72892835	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72892859	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv875410	chr2:172693780-172896587	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv875411	chr2:172693780-172942448	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	esv2830399	chr2:172781830-172952526	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
4	nsv1012188	chr2:172855923-172928891	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172810000-172862600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:172821000-172862800	Weak transcription	Brain Angular Gyrus	brain
3	chr2:172847400-172864000	Weak transcription	HSMM	muscle
4	chr2:172848000-172863200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr2:172849600-172863800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr2:172856600-172863200	Weak transcription	K562	blood
7	chr2:172858600-172863200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr2:172859400-172863600	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr2:172860000-172863000	Weak transcription	Brain Germinal Matrix	brain
10	chr2:172861200-172864000	Weak transcription	Right Atrium	heart
11	chr2:172861200-172864200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr2:172861400-172863800	Weak transcription	Ovary	ovary
13	chr2:172861400-172864000	Weak transcription	Primary hematopoietic stem cells	blood
14	chr2:172862000-172862400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
15	chr2:172862000-172863600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr2:172862200-172863800	Weak transcription	Fetal Brain Male	brain
17	chr2:172862200-172863800	Enhancers	NHEK	skin

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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